Mutation stratification of desmoid-type fibromatosis using a radiogenomics approach

Background Radiogenomics is a promising technique, correlating quantitative imaging features with molecular characteristics. Desmoid-type fibromatosis (DTF) is a rare, borderline, soft tissue tumor that arises from musculoaponeurotic structures. The vast majority of DTF tumors harbor a specific point mutation at the CTNNB1 gene, affecting two codons in exon 3; substituting threonine at position 41 with alanine (T41A) and replacing serine at position 45 with phenylalanine (S45F). Tumors without any mutation in the CTNNB1 gene are considered to be wildtypes. This study evaluates the use of radiogenomics features extracted from T1 weighted Magnetic Resonance (T1w MR) images to predict CTNNB1 mutation status (T41A, S45F and wildtype) of DTF tumors.